A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15703500



Internal ID21375776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78813977..78816047hg38UCSC Ensembl
chr5:78109800..78111870hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382071
hg192071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4391948
Supporting Variants
Samples
Known GenesARSB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15703500
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0603448


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